High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?

B Zhang, Q Zhou, Y Chen, Y Shi, F Zheng… - Prenatal …, 2020 - Wiley Online Library
Objective To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy
number variation (CNV) on false‐positive results of non‐invasive prenatal screening (NIPS) …

First‐trimester determination of fetal gender by ultrasound

Z Efrat, OO Akinfenwa… - Ultrasound in Obstetrics …, 1999 - Wiley Online Library
Objective To assess the accuracy of fetal sex determination at 11–14 weeks of gestation.
Methods Fetal gender assessment by ultrasound was prospectively carried out in 172 …

Efficiency of noninvasive prenatal testing for sex chromosome aneuploidies

Y Shi, X Li, D Ju, Y Li, X Zhang, Y Zhang - Gynecologic and Obstetric …, 2021 - karger.com
Objective: This study was designed to investigate the efficiency of noninvasive prenatal
testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing …

Cell‐free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy

G Le Conte, A Letourneau, J Jani… - … in Obstetrics & …, 2018 - Wiley Online Library
Objectives To evaluate in twin pregnancy the utility of non‐invasive prenatal testing using
circulating cell‐free fetal DNA (cfDNA) in screening for the three main autosomal fetal …

Cell-free fetal DNA in the early and late first trimester

CB Miltoft, L Rode, JR Bundgaard… - Fetal Diagnosis and …, 2020 - karger.com
Objective: The aim of this work was to investigate the association between maternal and
fetal characteristics and the fetal fraction at 8–14 weeks' gestation, with emphasis on the …

Implementation of maternal blood cell‐free DNA testing in early screening for aneuploidies

MM Gil, MS Quezada, B Bregant… - … in Obstetrics & …, 2013 - Wiley Online Library
Objective To explore the feasibility of routine maternal blood cell‐free (cf) DNA testing in
screening for trisomies 21, 18 and 13 at 10 weeks' gestation. Method In this prospective …

Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities

LS Chitty, L Hudgins, ME Norton - Prenatal Diagnosis, 2018 - Wiley Online Library
Noninvasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) from maternal serum has
been clinically available since 2011. This technology has revolutionized our ability to screen …

Non‐invasive prenatal testing for fetal chromosomal abnormalities by low‐coverage whole‐genome sequencing of maternal plasma DNA: review of 1982 consecutive …

TK Lau, SW Cheung, PSS Lo… - … in Obstetrics & …, 2014 - Wiley Online Library
Objective To review the performance of non‐invasive prenatal testing (NIPT) by low‐
coverage whole‐genome sequencing of maternal plasma DNA at a single center. Methods …

Noninvasive prenatal testing for early sex identification: a few benefits and many concerns

AR Chapman, PA Benn - Perspectives in Biology and Medicine, 2013 - muse.jhu.edu
A new technology, noninvasive prenatal testing (NIPT), can identify fetal sex early in
pregnancy, five weeks after conception, with a high degree of accuracy through analysis of …

Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing

K Lüthgens, FR Grati, M Sinzel, K Häbig… - Prenatal …, 2021 - Wiley Online Library
Objective To examine the positive predictive value (PPV) of cfDNA screening for sex
chromosome aneuploidies (SCA) in a large series of over 90 000 patients. Methods …